ClinVar Miner

List of variants reported as likely benign for Hypercholesterolemia, familial, 1 by Illumina Laboratory Services, Illumina

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.*1216dup rs34113544 0.56429
NM_000527.5(LDLR):c.*2054G>A rs28398082 0.03101
NM_015627.3(LDLRAP1):c.*766dup rs149951294 0.03084
NM_174936.4(PCSK9):c.*537del rs72646535 0.02413
NM_000527.5(LDLR):c.*1417A>C rs72658878 0.01310
NM_000527.5(LDLR):c.*803C>T rs17242677 0.01212
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_000527.5(LDLR):c.*1550A>T rs143587805 0.00878
NM_000527.5(LDLR):c.*2111G>A rs148054434 0.00508
NM_000527.5(LDLR):c.*1960C>T rs8108932 0.00395
NM_000527.5(LDLR):c.*1292C>T rs556381931 0.00379
NM_000527.5(LDLR):c.*338G>A rs17249029 0.00235
NM_000527.5(LDLR):c.*517C>A rs115882455 0.00227
NM_000527.5(LDLR):c.*1173G>C rs17249379 0.00217
NM_000527.5(LDLR):c.1545C>T (p.Asn515=) rs147896205 0.00183
NM_000527.5(LDLR):c.*1377G>A rs563300769 0.00078
NM_000527.5(LDLR):c.*1140G>A rs367606490 0.00019
NM_000527.5(LDLR):c.*1269G>A rs573433655 0.00005
NM_000527.5(LDLR):c.993C>T (p.Asp331=) rs147905921 0.00002
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
NM_000527.5(LDLR):c.*1232CTA[1] rs398059563
NM_000527.5(LDLR):c.*2126G>A rs142697277
NM_000527.5(LDLR):c.*2196TA[7] rs3980933
NM_000527.5(LDLR):c.*223G>A rs17243011
NM_000527.5(LDLR):c.*965C>T rs72658874
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.940+9C>T
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_174936.4(PCSK9):c.*1247AAAC[2] rs368406783
NM_174936.4(PCSK9):c.*448dup rs72646533

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